DNA Test for Boxer Cardiomyopathy

Both carriers and affected dogs can now be identified with certainty.

News item written by Mary Straus, published in the Whole Dog Journal, September 2009.

Cardiomyopathy is a form of heart disease that affects a number of different breeds, including Boxers, Doberman Pinschers, and Cocker Spaniels. Boxer Cardiomyopathy, or more specifically arrhythmogenic right ventricular cardiomyopathy (ARVC), is an inherited electrical conduction defect that causes an arrhythmia, or irregular heart beat. The affected heart does not pump blood efficiently, leading to changes in the heart muscle that can cause fainting and sudden death. Because the arrhythmia may occur infrequently, it can be difficult to detect on examination, even by a specialist.

In April 2009, Dr. Kathryn Meurs, a veterinarian at Washington State University’s College of Veterinary Medicine, announced that she had identified the mutant gene responsible for Boxer Cardiomyopathy. The gene is autosomal dominant; if a puppy receives it from just one patent, he will be affected. Even a Boxer-mix with the mutant gene could be affected. (Affected parents can produce normal offspring, as pups who do not receive the gene will not be affected.)

A DNA test to screen for this mutation is now available from WSU. The test can be completed with an in-home cheek-swab kit or a blood sample taken by your veterinarian, and costs just $60.

The DNA test will be useful to breeders who can now hope to breed around the defect. It will also be helpful to pet owners, who can manage the disease even before any symptoms are seen with inexpensive medications that can extend the dog’s life. The average monthly costs for treatment are estimated to be less than $100, according to Dr. Meurs. It could also be used to screen puppies before they are brought home.